Characterization of a L136P mutation in Formin-like 2 (FMNL2) from a patient with chronic inflammatory bowel disease

Diaphanous related formins are highly conserved proteins regulated by Rho-GTPases that act as actin nucleation and assembly factors. Here we report the functional characterization of a non-inherited heterozygous FMNL2 p.L136P mutation carried by a patient who presented with severe very early onset i...

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Detalles Bibliográficos
Autores principales: Trefzer, Raphael, Elpeleg, Orly, Gabrusskaya, Tatyana, Stepensky, Polina, Mor-Shaked, Hagar, Grosse, Robert, Brandt, Dominique T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8158924/
https://www.ncbi.nlm.nih.gov/pubmed/34043722
http://dx.doi.org/10.1371/journal.pone.0252428

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8158924/
https://www.ncbi.nlm.nih.gov/pubmed/34043722
http://dx.doi.org/10.1371/journal.pone.0252428

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